lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	2175
Symbol	FANCA
Synonymous	FA\|FA-H\|FA1\|FAA\|FACA\|FAH\|FANCH
Full name	Fanconi anemia, complementation group A
Gene description	Fanconi anemia group A protein\|Fanconi anemia, complementation group H\|Fanconi anemia, type 1
Cytoband	16q24.3
Gene type	protein-coding
Synonymous	MIM:607139; HGNC:HGNC:3582; Ensembl:ENSG00000187741; HPRD:06186; Vega:OTTHUMG00000173049

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1762C>T; p.L588F; 16:89778957-89778957	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3201C>T; p.A1067A; 16:89749768-89749768	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4284C>T; p.C1428C; 16:89738685-89738685	parathyroid	carcinoma	Substitution - coding silent
c.136T>C; p.S46P; 16:89815930-89815930	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.213delA; p.K71fs*7; 16:89814590-89814590	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4115A>G; p.D1372G; 16:89739185-89739185	thyroid	other; neoplasm	Substitution - Missense
c.3631C>A; p.L1211I; 16:89742934-89742934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1235C>T; p.A412V; 16:89791527-89791527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3610C>T; p.R1204W; 16:89744975-89744975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1364C>T; p.S455F; 16:89784960-89784960	skin	malignant_melanoma	Substitution - Missense
c.1498C>T; p.P500S; 16:89783075-89783075	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.L390L; 16:89791982-89791982	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2357C>T; p.A786V; 16:89769984-89769984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.236A>T; p.D79V; 16:89814567-89814567	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1806G>A; p.A602A; 16:89778821-89778821	kidney	other; neoplasm	Substitution - coding silent
c.1806G>A; p.A602A; 16:89778821-89778821	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2410G>A; p.G804S; 16:89769931-89769931	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 16:89815954-89815954	breast	carcinoma	Substitution - Missense
c.1806G>A; p.A602A; 16:89778821-89778821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.690C>T; p.V230V; 16:89805299-89805299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.553C>A; p.L185I; 16:89808337-89808337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1847C>A; p.S616Y; 16:89775795-89775795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.215delT; p.L72fs*6; 16:89814588-89814588	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3480G>C; p.Q1160H; 16:89746617-89746617	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3480G>C; p.Q1160H; 16:89746617-89746617	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4051G>C; p.E1351Q; 16:89739249-89739249	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3690G>A; p.L1230L; 16:89742875-89742875	skin	malignant_melanoma	Substitution - coding silent
c.3900A>G; p.I1300M; 16:89740028-89740028	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4118C>T; p.T1373I; 16:89739182-89739182	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3900A>G; p.I1300M; 16:89740028-89740028	stomach	adenocarcinoma	Substitution - Missense
c.3007A>C; p.N1003H; 16:89752197-89752197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3557G>A; p.R1186K; 16:89745028-89745028	skin	malignant_melanoma	Substitution - Missense
c.897C>T; p.F299F; 16:89796015-89796015	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3557G>A; p.R1186K; 16:89745028-89745028	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428C>G; p.F476L; 16:89784896-89784896	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3116G>A; p.G1039D; 16:89749853-89749853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1756G>A; p.A586T; 16:89778963-89778963	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2836C>T; p.L946F; 16:89761965-89761965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2962C>T; p.L988L; 16:89758596-89758596	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3289G>A; p.A1097T; 16:89748718-89748718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>T; p.D694Y; 16:89771749-89771749	breast	carcinoma	Substitution - Missense
c.2956A>C; p.N986H; 16:89758602-89758602	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.2048G>T; p.R683I; 16:89771781-89771781	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1077C>T; p.Y359Y; 16:89792477-89792477	skin	malignant_melanoma	Substitution - coding silent
c.1302G>T; p.V434V; 16:89791460-89791460	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4299C>T; p.S1433S; 16:89738670-89738670	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1550G>T; p.R517L; 16:89783023-89783023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.V677M; 16:89771800-89771800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3754G>A; p.E1252K; 16:89742811-89742811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2724C>G; p.L908L; 16:89764944-89764944	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2730_2731delCT; p.W911fs*31; 16:89764937-89764938	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3665C>T; p.P1222L; 16:89742900-89742900	urinary_tract; bladder	carcinoma	Substitution - Missense
c.891C>T; p.C297C; 16:89799168-89799168	skin	malignant_melanoma	Substitution - coding silent
c.891C>T; p.C297C; 16:89799168-89799168	skin	malignant_melanoma	Substitution - coding silent
c.2791G>C; p.D931H; 16:89762010-89762010	breast	carcinoma	Substitution - Missense
c.1245G>A; p.M415I; 16:89791517-89791517	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.231G>C; p.V77V; 16:89814572-89814572	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2890C>T; p.L964F; 16:89758668-89758668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2127G>T; p.P709P; 16:89771702-89771702	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4274G>A; p.R1425H; 16:89738695-89738695	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>A; p.G246R; 16:89803315-89803315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3114C>T; p.L1038L; 16:89749855-89749855	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3032G>A; p.R1011H; 16:89752172-89752172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3406A>G; p.R1136G; 16:89746833-89746833	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2778+1G>A; p.?; 16:89764889-89764889	prostate	carcinoma; adenocarcinoma	Unknown
c.759G>C; p.L253L; 16:89803292-89803292	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.643_644delTG; p.C215fs*4; 16:89805345-89805346	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1098G>C; p.L366L; 16:89792054-89792054	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.140C>T; p.A47V; 16:89815926-89815926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1305C>G; p.R435R; 16:89791457-89791457	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1098G>C; p.L366L; 16:89792054-89792054	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.151C>A; p.L51M; 16:89815915-89815915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2695C>T; p.P899S; 16:89764973-89764973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3343G>A; p.E1115K; 16:89748664-89748664	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1289C>T; p.A430V; 16:89791473-89791473	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3764A>G; p.E1255G; 16:89742801-89742801	pancreas	carcinoma	Substitution - Missense
c.1289C>T; p.A430V; 16:89791473-89791473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2314delC; p.Q772fs*5; 16:89770168-89770168	breast	carcinoma	Deletion - Frameshift
c.3791C>A; p.S1264Y; 16:89740841-89740841	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1331C>T; p.A444V; 16:89791431-89791431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1331C>T; p.A444V; 16:89791431-89791431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3043G>A; p.E1015K; 16:89752161-89752161	breast	carcinoma	Substitution - Missense
c.3689T>C; p.L1230P; 16:89742876-89742876	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.636G>A; p.R212R; 16:89805353-89805353	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.3630C>T; p.F1210F; 16:89742935-89742935	breast	carcinoma	Substitution - coding silent
c.2151G>T; p.M717I; 16:89771678-89771678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1777C>T; p.L593F; 16:89778850-89778850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2675C>T; p.S892F; 16:89764993-89764993	skin	malignant_melanoma	Substitution - Missense
c.1490C>T; p.P497L; 16:89783083-89783083	skin	malignant_melanoma	Substitution - Missense
c.2092G>A; p.E698K; 16:89771737-89771737	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4322A>G; p.Q1441R; 16:89738647-89738647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4322A>G; p.Q1441R; 16:89738647-89738647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4322A>G; p.Q1441R; 16:89738647-89738647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2832T>G; p.D944E; 16:89761969-89761969	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1458C>T; p.P486P; 16:89784866-89784866	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4322A>G; p.Q1441R; 16:89738647-89738647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4322A>G; p.Q1441R; 16:89738647-89738647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3280A>G; p.S1094G; 16:89748727-89748727	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2212C>T; p.P738S; 16:89770574-89770574	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3982A>G; p.T1328A; 16:89739506-89739506	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4146G>A; p.R1382R; 16:89739154-89739154	skin	malignant_melanoma	Substitution - coding silent
c.2426G>A; p.G809D; 16:89769915-89769915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3807G>C; p.L1269L; 16:89740825-89740825	thyroid	other; neoplasm	Substitution - coding silent
c.2426G>A; p.G809D; 16:89769915-89769915	breast	carcinoma	Substitution - Missense
c.767C>T; p.T256I; 16:89803284-89803284	skin	malignant_melanoma	Substitution - Missense
c.2712G>C; p.Q904H; 16:89764956-89764956	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565A>G; p.K522R; 16:89783008-89783008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2779-7T>C; p.?; 16:89762029-89762029	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2779-7T>C; p.?; 16:89762029-89762029	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.563A>G; p.Q188R; 16:89808327-89808327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2487C>A; p.S829S; 16:89769854-89769854	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2723T>C; p.L908P; 16:89764945-89764945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1098G>A; p.L366L; 16:89792054-89792054	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2487C>A; p.S829S; 16:89769854-89769854	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.994C>G; p.P332A; 16:89795918-89795918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3071_3072insT; p.M1024fs*4; 16:89749897-89749898	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.3643G>T; p.A1215S; 16:89742922-89742922	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.115A>C; p.R39R; 16:89815951-89815951	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1143G>T; p.T381T; 16:89792009-89792009	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1143G>T; p.T381T; 16:89792009-89792009	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3877G>A; p.E1293K; 16:89740051-89740051	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1984G>A; p.A662T; 16:89773301-89773301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1844delC; p.P615fs*25; 16:89775798-89775798	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2452T>C; p.F818L; 16:89769889-89769889	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2452T>C; p.F818L; 16:89769889-89769889	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3874C>T; p.L1292F; 16:89740054-89740054	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.428A>G; p.K143R; 16:89810801-89810801	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1014T>C; p.D338D; 16:89792540-89792540	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1498C>G; p.P500A; 16:89783075-89783075	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1625A>C; p.E542A; 16:89782860-89782860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2846C>A; p.T949N; 16:89761955-89761955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1265G>A; p.C422Y; 16:89791497-89791497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2749C>T; p.R917*; 16:89764919-89764919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.886A>G; p.R296G; 16:89799173-89799173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163H; 16:89810741-89810741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163H; 16:89810741-89810741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4201C>G; p.L1401V; 16:89738941-89738941	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3263C>T; p.S1088F; 16:89748744-89748744	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1486C>T; p.P496S; 16:89783087-89783087	skin	malignant_melanoma	Substitution - Missense
c.343G>C; p.G115R; 16:89811012-89811012	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2745C>T; p.T915T; 16:89764923-89764923	skin	malignant_melanoma	Substitution - coding silent
c.155G>T; p.R52L; 16:89815911-89815911	breast	carcinoma	Substitution - Missense
c.119C>A; p.A40E; 16:89815947-89815947	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.328G>T; p.G110C; 16:89811027-89811027	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2728C>T; p.L910F; 16:89764940-89764940	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.480G>T; p.M160I; 16:89810749-89810749	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.1146G>T; p.Q382H; 16:89792006-89792006	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3557G>T; p.R1186M; 16:89745028-89745028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.678G>T; p.Q226H; 16:89805311-89805311	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1262G>A; p.S421N; 16:89791500-89791500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4336G>A; p.A1446T; 16:89738633-89738633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3654A>G; p.P1218P; 16:89742911-89742911	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4303G>C; p.A1435P; 16:89738666-89738666	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3160A>T; p.R1054*; 16:89749809-89749809	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1095G>T; p.M365I; 16:89792057-89792057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.A283T; 16:89799212-89799212	ovary	other; neoplasm	Substitution - Missense
c.3482C>T; p.T1161M; 16:89746615-89746615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3482C>T; p.T1161M; 16:89746615-89746615	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.847G>A; p.A283T; 16:89799212-89799212	ovary	other; neoplasm	Substitution - Missense
c.1827-1G>C; p.?; 16:89775816-89775816	breast	carcinoma	Unknown
c.976C>T; p.Q326*; 16:89795936-89795936	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3157C>T; p.R1053C; 16:89749812-89749812	breast	carcinoma	Substitution - Missense
c.1700C>T; p.T567I; 16:89779884-89779884	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3244C>T; p.L1082F; 16:89748763-89748763	skin	malignant_melanoma	Substitution - Missense
c.917C>T; p.T306M; 16:89795995-89795995	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1401G>A; p.K467K; 16:89784923-89784923	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1401G>A; p.K467K; 16:89784923-89784923	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2590C>A; p.L864I; 16:89767152-89767152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3250C>T; p.R1084C; 16:89748757-89748757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3250C>T; p.R1084C; 16:89748757-89748757	breast	carcinoma	Substitution - Missense
c.3250C>T; p.R1084C; 16:89748757-89748757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250C>T; p.R1084C; 16:89748757-89748757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1812A>G; p.I604M; 16:89778815-89778815	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4307T>C; p.L1436P; 16:89738662-89738662	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1738G>A; p.V580M; 16:89778981-89778981	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4307T>C; p.L1436P; 16:89738662-89738662	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3691C>A; p.H1231N; 16:89742874-89742874	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3687A>G; p.A1229A; 16:89742878-89742878	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4307T>C; p.L1436P; 16:89738662-89738662	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307T>C; p.L1436P; 16:89738662-89738662	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2201C>T; p.S734F; 16:89770585-89770585	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.894-8A>G; p.?; 16:89796026-89796026	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2123C>T; p.T708M; 16:89771706-89771706	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2901C>T; p.S967S; 16:89758657-89758657	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2901C>T; p.S967S; 16:89758657-89758657	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2851C>T; p.R951W; 16:89761950-89761950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1909C>A; p.L637M; 16:89773376-89773376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2731_2732insCT; p.W911fs*11; 16:89764936-89764937	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.960C>G; p.F320L; 16:89795952-89795952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2414C>G; p.P805R; 16:89769927-89769927	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3163C>G; p.R1055G; 16:89749806-89749806	breast	carcinoma	Substitution - Missense
c.3382C>A; p.Q1128K; 16:89746857-89746857	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2795G>T; p.W932L; 16:89762006-89762006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2520A>G; p.A840A; 16:89767222-89767222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2795G>T; p.W932L; 16:89762006-89762006	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3224T>C; p.L1075P; 16:89749745-89749745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1238G>A; p.R413H; 16:89791524-89791524	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2662G>A; p.V888I; 16:89765006-89765006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3462C>T; p.F1154F; 16:89746635-89746635	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1359G>T; p.K453N; 16:89791403-89791403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2722_2723delCT; p.W911fs*31; 16:89764945-89764946	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.2304G>A; p.L768L; 16:89770178-89770178	oesophagus	carcinoma	Substitution - coding silent
c.3532G>T; p.E1178*; 16:89745053-89745053	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3532G>T; p.E1178*; 16:89745053-89745053	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>A; p.A737T; 16:89770577-89770577	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3532G>T; p.E1178*; 16:89745053-89745053	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1038G>T; p.W346C; 16:89792516-89792516	skin	malignant_melanoma	Substitution - Missense
c.1322G>A; p.G441D; 16:89791440-89791440	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3524C>T; p.P1175L; 16:89745061-89745061	oesophagus	carcinoma	Substitution - Missense
c.3640G>C; p.E1214Q; 16:89742925-89742925	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3231G>A; p.M1077I; 16:89749738-89749738	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4020C>T; p.S1340S; 16:89739280-89739280	skin	malignant_melanoma	Substitution - coding silent
c.797C>T; p.T266M; 16:89799634-89799634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.623_624CG>AT; p.S208Y; 16:89805365-89805366	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2054G>A; p.R685K; 16:89771775-89771775	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2915delG; p.G972fs*17; 16:89758643-89758643	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.502C>G; p.Q168E; 16:89810727-89810727	breast	carcinoma	Substitution - Missense
c.687C>T; p.D229D; 16:89805302-89805302	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3783C>A; p.F1261L; 16:89740849-89740849	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2977C>T; p.Q993*; 16:89758581-89758581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.214delT; p.L72fs*6; 16:89814589-89814589	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2993A>G; p.Y998C; 16:89752211-89752211	liver	carcinoma	Substitution - Missense
c.3483G>A; p.T1161T; 16:89746614-89746614	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3483G>A; p.T1161T; 16:89746614-89746614	skin	malignant_melanoma	Substitution - coding silent
c.3959_3961delTCC; p.L1320delL; 16:89739527-89739529	breast	carcinoma	Deletion - In frame
c.4247C>T; p.S1416L; 16:89738895-89738895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4247C>T; p.S1416L; 16:89738895-89738895	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.487C>T; p.R163C; 16:89810742-89810742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2422C>T; p.P808S; 16:89769919-89769919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation